Birth Defects

Birth defects are malformations and complications that babies are born with. Birth defects may be minor or severe and can affect physical appearance, physical function, and cognitive function. Birth defects may be a result of genetic abnormalities, chromosomal disorders, or environmental factors. Some of the more common birth defects are treatable, but rarer defects may not be treatable or may have varying degrees of success with treatment methods. Prenatal screening may help parents to detect birth defects before the child is born.

Birth Defects Statistics

According to the Centers for disease Control and Prevention, about one in 33 babies is born with a birth defect. These defects are the leading cause of infant death, accounting for approximately 20 percent of all infant fatalities. About 150,000 babies are born with birth defects every year in the United States. Many states have birth defects surveillance programs in place to track the number and prevalence of birth defects in order to gauge correlating risk factors and other information.

Causes of Birth Defects

Birth defects can be caused by genetic factors that are present in the family lineage, by environmental factors, or by unknown factors. In some cases, a genetic abnormality is carried in the family’s genetic code and unknowingly passed onto the child from two healthy parents. When genetic factors lie at the root of birth defects, prevention of the defects is not possible.

Environmental Causes

Lifestyle factors such as smoking, drinking, prescription drug use, and non-prescription drug use increase the risk of birth defects. Exposure to certain environmental pollutants may also increase the risk of birth defects to varying degrees, depending on the concentration and type of chemical. Medical conditions and trauma during pregnancy can cause harm to the fetus and result in the baby being born with birth defects. Diabetes, infections, STDs, and many other maternal health conditions may have an effect on the health of an infant.

Prenatal Care

Proper nutrition, rest, and self-care during pregnancy are very important to the health of the baby. The B vitamin folic acid has been found to be of particular importance in preventing neural tube defects when taken before and during early stages of pregnancy. Beginning in 1998, the FDA began to require that all enriched grain products be fortified with folic acid, which decreased the prevalence of spina bifida by 36 percent and anencephaly by 17 percent. Prenatal vitamin supplements can help to ensure proper nutrition through pregnancy and regular doctor’s appointments can help to ensure that other aspects of prenatal care are properly addressed.

Types of Birth Defects

There are over 4,000 known birth defects. When a baby is born with a part of the body missing or malformed, it is known as a structural birth defect. When a baby is born with an imbalance or complication that prevents the body or brain from functioning normally, it is known as a functional birth defect.

Structural Birth Defects

Common structural birth defects include:

Heart defects

Spina bifida

Cleft palate

Club foot

Anotia or microtia, absence of one or both ears

Anophthalmos or microphthalmos, absence or one or both eyes

Down’s syndrome

Fused limbs or digits

Functional Birth Defects

Common functional birth defects include:

Tay-Sachs disease, a fatal disease that affects the CNS

Phenylketonuria, which affects the way the body processes protein

Autism

Cerebral palsy

Hypothyroidism

Muscular dystrophy

Color blindness

Treating Birth Defects

Ultrasounds, blood tests, and amniocentesis can sometimes help physicians to diagnose birth defects while the baby is in the womb. If certain birth defects are detected, physicians can prescribe medications that may help to treat the baby before birth. Other birth defects may be treatable after birth with surgery, medication, therapy, or some combination of the three.

Treatment after Birth

Many structural birth defects can be treated after delivery with surgery. Surgery may be needed to correct organ malformations to prevent fatality or worsening conditions. Plastic surgery can correct some visible structural birth defects for medical and cosmetic reasons. Medications and therapy may help to treat functional birth defects to varying degrees.